4.3 Article

Monogenic diabetes: A single center experience from South India

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PEDIATRIC DIABETES
卷 22, 期 1, 页码 75-81

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WILEY
DOI: 10.1111/pedi.13040

关键词

monogenic diabetes; neonatal diabetes mellitus; syndromic diabetes; Wolfram syndrome

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In a retrospective analysis of 37 children with monogenic diabetes in a South Indian tertiary care center from 2008 to 2019, the diagnoses included neonatal diabetes mellitus, MODY, and various syndromic forms of diabetes such as Wolfram syndrome, H syndrome, mitochondrial diabetes, and thiamine responsive megaloblastic anemia.
Monogenic forms of diabetes in children are frequently misclassified as either type 1 diabetes or young-onset type 2 diabetes. There is a paucity of literature regarding pediatric monogenic diabetes in the Indian population. A retrospective analysis of case records of 37 children with monogenic diabetes who were diagnosed between 2008 and 2019 in a South Indian tertiary care center was performed. The write-up describes the clinical, biochemical, and genetic characterization of these patients with the diagnoses of neonatal diabetes mellitus (15 patients), MODY (five patients), and various forms of syndromic diabetes (13 with Wolfram syndrome, two with H syndrome, one with mitochondrial diabetes, and one with thiamine responsive megaloblastic anemia).

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